STAT3是致癌基因，编码蛋白是一种转录因子，参与促致癌基因JAK信号转导，是一种受细胞因子和生长因子刺激受体激酶激活的转录因子。非受体JAK酪氨酸激酶随后磷酸化STAT3，导致STAT复合物的二聚化和核转位。STAT3的胚系突变与自身免疫和淋巴细胞增殖有关。STAT3胚系突变也被鉴定为与高IgE综合征有关，其特征是IgE水平升高、结缔组织异常和免疫缺陷。STAT3体细胞激活突变发现于大颗粒淋巴细胞白血病中，但在骨髓增生异常综合征、再生障碍性贫血和淋巴瘤更少见。STAT3突变也在炎性肝腺瘤中发现，拷贝数的变异在乳腺癌样本发现。

STAT3 (Signal transducer and activator of transcription 3) is a transcription factor that is activated by cytokine and growth factor stimulation of receptor kinases. Non-receptor JAK tyrosine kinases subsequently phosphorylate STAT3, leading to dimerization and nuclear translocation of STAT complexes. STAT3 is involved in regulating development of the skin, central nervous system and mammary tissue. Activated STAT3 is found in various cancer types, most notably in breast cancer, and is implicated in pathways important for survival, immune dysregulation, tumor microenvironment modulation and invasion. Germline mutations in STAT3 are associated with autoimmunity and lymphoproliferation. STAT3 germline mutations have also been identified in hyper-IgE syndrome characterized by elevated IgE levels, connective tissue abnormalities and immunodeficiency. Somatic activating STAT3 mutations are found in large granular lymphocytic leukemia and more rarely in myelodysplastic syndrome, aplastic anemia and lymphomas. STAT3 mutations have also been found in inflammatory hepatocellular adenomas and copy number alterations are present in breast cancer samples.

GeneCards OncoKB My Cancer Genome